Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan

(2013) Elizabeth Stevens et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

(2013) Keren J. Carss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Adeno-Associated Viral-Mediated LARGE Gene Therapy Rescues the Muscular Dystrophic Phenotype in Mouse Models of Dystroglycanopathy

(2013) Miao Yu et al.   HUMAN GENE THERAPY

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

(2013) Karen Buysse et al.   HUMAN MOLECULAR GENETICS

The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice

(2013) Charlotte Whitmore et al.   HUMAN MOLECULAR GENETICS

Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression

(2013) Motoi Kanagawa et al.   HUMAN MOLECULAR GENETICS

LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy

(2013) Matthew M. Goddeeris et al.   NATURE

SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function

(2013) T. Yoshida-Moriguchi et al.   SCIENCE

Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

(2013) L. T. Jae et al.   SCIENCE

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

(2012) M. Chiara Manzini et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly

(2012) Sandrine Vuillaumier-Barrot et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

(2012) Rita Barone et al.   ANNALS OF NEUROLOGY

Satellite cells are essential for skeletal muscle regeneration: the cell on the edge returns centre stage

(2012) F. Relaix et al.   DEVELOPMENT

Muscle-specific expression of LARGE restores neuromuscular transmission deficits in dystrophic LARGEmyd mice

(2012) Jessica D. Gumerson et al.   HUMAN MOLECULAR GENETICS

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

(2012) Tony Roscioli et al.   NATURE GENETICS

ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

(2012) Tobias Willer et al.   NATURE GENETICS

Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE

(2012) K.-i. Inamori et al.   SCIENCE

Differential glycosylation of  -dystroglycan and proteins other than  -dystroglycan by like-glycosyltransferase

(2011) P. Zhang et al.   GLYCOBIOLOGY

Muscle-specific expression of insulin-like growth factor 1 improves outcome in Lama2Dy-w mice, a model for congenital muscular dystrophy type 1A

(2011) A. Kumar et al.   HUMAN MOLECULAR GENETICS

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy

(2011) Mariko Taniguchi-Ikeda et al.   NATURE

A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

(2011) Yuji Hara et al.   NEW ENGLAND JOURNAL OF MEDICINE

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

(2011) Dirk J. Lefeber et al.   PLoS Genetics

Elevated satellite cell number in Duchenne muscular dystrophy

(2010) Michael Kottlors et al.   CELL AND TISSUE RESEARCH

Regeneration of Mammalian Skeletal Muscle: Basic Mechanisms and Clinical Implications

(2010) Stefano Ciciliot et al.   CURRENT PHARMACEUTICAL DESIGN

Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations

(2010) Fatemeh Geranmayeh et al.   NEUROMUSCULAR DISORDERS

Transgenic Overexpression of LARGE Induces α-Dystroglycan Hyperglycosylation in Skeletal and Cardiac Muscle

(2010) Martin Brockington et al.   PLoS One

O-Mannosyl Phosphorylation of Alpha-Dystroglycan Is Required for Laminin Binding

(2010) T. Yoshida-Moriguchi et al.   SCIENCE

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

(2009) Dirk J. Lefeber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Tumor suppressor function of laminin-binding  -dystroglycan requires a distinct  3-N-acetylglucosaminyltransferase

(2009) X. Bao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Role of IGF-I in skeletal muscle mass maintenance

(2009) David R. Clemmons   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Processing and secretion of the N-terminal domain of α-dystroglycan in cell culture media

(2008) Fumiaki Saito et al.   FEBS LETTERS

Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation

(2008) Shigeru Sato et al.   NATURE NEUROSCIENCE